Varaico: Literature-Extracted Genetic Variants

TNC

529 papers

RefSeq Summary

This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EG...

Pfam Domains

EGF_Teneurinaa 190–219UCSCTeneurin-like EGF domain

EGF_TENaa 286–510UCSCTeneurin EGF domain

EGF_TENaa 503–647UCSCTeneurin EGF domain

fn3aa 624–709UCSCFibronectin type III domain

fn3aa 713–802UCSCFibronectin type III domain

fn3aa 804–891UCSCFibronectin type III domain

Gene Aliases

HGNC Name

tenascin C

HGNC Previous Symbols

HXB; DFNA56

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002160.4

p.R2050C

c.6148C>T

Surrounding Variants

2 papers

NM_002160.4

p.G2048G

c.6144G>A

1 paper

NM_002160.4

p.E2034K

c.6100G>A

1 paper

NM_002160.4

p.R2029H

c.6086G>A

1 paper

NM_002160.4

p.R2029C

c.6085C>T

10 papers

NM_002160.4

p.E2008Q

c.6022G>C

1 paper

NM_002160.4

p.L1997I

c.5989C>A

1 paper

NM_002160.4

p.G1996A

c.5987G>C

1 paper

NM_002160.4

p.I1974T

c.5921T>C

1 paper

NM_002160.4

p.Q1968R

c.5903A>G

1 paper

NM_002160.4

p.P1947fs

c.5839_5840fs

2 papers

NM_002160.4

p.T1937I

c.5810C>T

1 paper

NM_002160.4

p.D1936G

c.5807A>G